Improved breast cancer screening adherence among participants receiving a negative result from a multi-health system Population Genomics Screening program
Health Services and Implementation
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Primary Categories:
- Population Genetics
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Secondary Categories:
- Population Genetics
Introduction:
Population screening for genetic conditions is gaining traction as a means for identifying individuals at risk for disease.1,2 Three conditions are consistently included as part of these programs: Lynch Syndrome, Hereditary breast and ovarian syndrome due to BRCA1 and BRCA2 variants and familial hypercholesterolemia; commonly referred to as the CDC Tier 1 genomic conditions. The benefits of screening are often ascribed to the patients who are found to screen positive for one of these conditions, but rarely are the impacts to patients who screen negative discussed. If impacts to patients who screen negative are described, they often include false reassurance and the risk of reduced standard screening compliance.3-6 We evaluated adherence to standard breast cancer screening (defined as mammogram or mri every 2 years) among individuals who received negative BRCA1 and BRCA2 results through a health system-initiated population genomic screening network before and after participation in the screening program.
Methods:
As part of the Helix Research Network (HRN), participants across different health systems each provided a sample that underwent clinical-grade exome sequencing for subsequent evaluation of pathogenic or likely pathogenic variants in BRCA1 and BRCA2. For research purposes and with participants’ consent, longitudinal EHR data were also collected and linked with participants’ genetic data. The current analysis includes patients from six U.S. health systems. A longitudinal cohort study design was employed to examine the behavior of participants before and after enrollment in the Helix Research Network (HRN) program. Participants were included if they had more than 6 months of follow-up time and more than a year of look-back time pre-HRN.
Enrollment in the HRN program served as the exposure of interest, while the primary outcome measure was breast imaging screening rates. Crude screening rates pre- and post-enrollment were calculated, and poisson regression was utilized to estimate rates adjusted for age and time enrolled in the program. These adjusted rates were converted to average time between screenings. We then compared the proportion adhering to screening recommendations pre vs. post HRN enrollment using chi-square tests.
Results:
Among women from 40 to 75 who participated in the CDC Tier 1 screening program, 41,271 patients met inclusion criteria. Patients had an average of 13 years of previous electronic health record-derived clinical information and up to 4 years (range: 0.5 - 7.4, mean: 2.7) of follow-up records. Adherence to screening improved significantly from 46.1% of individuals adhering to guidelines prior to enrollment in the screening program to 64.4% of individual post-enrollment (p<0.001). Time between screenings also improved from 5.25 average years between screening events prior to receipt of CDCT1 results to 3.06 years subsequent to receipt of CDCT1 results (RR = 1.98, p = < 0.001). The screening compliance demonstrated a sustained effect with approximately 3 years between screenings up to 4 years post CDCT1 screening program enrollment (p < 0.001).
Conclusion:
Population genomic screening program studies typically focus on identifying patients with a positive finding and their downstream management. Our study evaluates the patients who screen negative in these programs and their follow-up care, specifically women and their breast cancer screening compliance. We demonstrated that women receiving a negative result from their CDCT1 screening significantly improved their general breast cancer screening compliance. Importantly, this behavior appears to be sustained over time. This finding reinforces prior studies in which participants with negative screening results did not intend to change their care plans.5-7 Our analysis suggests minimal impact of false reassurance, and, more importantly, that population genomic screening programs yield benefit to all comers not only participants with a positive screening.
Population screening for genetic conditions is gaining traction as a means for identifying individuals at risk for disease.1,2 Three conditions are consistently included as part of these programs: Lynch Syndrome, Hereditary breast and ovarian syndrome due to BRCA1 and BRCA2 variants and familial hypercholesterolemia; commonly referred to as the CDC Tier 1 genomic conditions. The benefits of screening are often ascribed to the patients who are found to screen positive for one of these conditions, but rarely are the impacts to patients who screen negative discussed. If impacts to patients who screen negative are described, they often include false reassurance and the risk of reduced standard screening compliance.3-6 We evaluated adherence to standard breast cancer screening (defined as mammogram or mri every 2 years) among individuals who received negative BRCA1 and BRCA2 results through a health system-initiated population genomic screening network before and after participation in the screening program.
Methods:
As part of the Helix Research Network (HRN), participants across different health systems each provided a sample that underwent clinical-grade exome sequencing for subsequent evaluation of pathogenic or likely pathogenic variants in BRCA1 and BRCA2. For research purposes and with participants’ consent, longitudinal EHR data were also collected and linked with participants’ genetic data. The current analysis includes patients from six U.S. health systems. A longitudinal cohort study design was employed to examine the behavior of participants before and after enrollment in the Helix Research Network (HRN) program. Participants were included if they had more than 6 months of follow-up time and more than a year of look-back time pre-HRN.
Enrollment in the HRN program served as the exposure of interest, while the primary outcome measure was breast imaging screening rates. Crude screening rates pre- and post-enrollment were calculated, and poisson regression was utilized to estimate rates adjusted for age and time enrolled in the program. These adjusted rates were converted to average time between screenings. We then compared the proportion adhering to screening recommendations pre vs. post HRN enrollment using chi-square tests.
Results:
Among women from 40 to 75 who participated in the CDC Tier 1 screening program, 41,271 patients met inclusion criteria. Patients had an average of 13 years of previous electronic health record-derived clinical information and up to 4 years (range: 0.5 - 7.4, mean: 2.7) of follow-up records. Adherence to screening improved significantly from 46.1% of individuals adhering to guidelines prior to enrollment in the screening program to 64.4% of individual post-enrollment (p<0.001). Time between screenings also improved from 5.25 average years between screening events prior to receipt of CDCT1 results to 3.06 years subsequent to receipt of CDCT1 results (RR = 1.98, p = < 0.001). The screening compliance demonstrated a sustained effect with approximately 3 years between screenings up to 4 years post CDCT1 screening program enrollment (p < 0.001).
Conclusion:
Population genomic screening program studies typically focus on identifying patients with a positive finding and their downstream management. Our study evaluates the patients who screen negative in these programs and their follow-up care, specifically women and their breast cancer screening compliance. We demonstrated that women receiving a negative result from their CDCT1 screening significantly improved their general breast cancer screening compliance. Importantly, this behavior appears to be sustained over time. This finding reinforces prior studies in which participants with negative screening results did not intend to change their care plans.5-7 Our analysis suggests minimal impact of false reassurance, and, more importantly, that population genomic screening programs yield benefit to all comers not only participants with a positive screening.